rs387906293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs387906293(-;C) |
Make rs387906293(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44293000 |
Gene | AIRE |
is a | snp |
is | mentioned by |
dbSNP | rs387906293 |
dbSNP (classic) | rs387906293 |
ClinGen | rs387906293 |
ebi | rs387906293 |
HLI | rs387906293 |
Exac | rs387906293 |
Gnomad | rs387906293 |
Varsome | rs387906293 |
LitVar | rs387906293 |
Map | rs387906293 |
PheGenI | rs387906293 |
Biobank | rs387906293 |
1000 genomes | rs387906293 |
hgdp | rs387906293 |
ensembl | rs387906293 |
geneview | rs387906293 |
scholar | rs387906293 |
rs387906293 | |
pharmgkb | rs387906293 |
gwascentral | rs387906293 |
openSNP | rs387906293 |
23andMe | rs387906293 |
SNPshot | rs387906293 |
SNPdbe | rs387906293 |
MSV3d | rs387906293 |
GWAS Ctlg | rs387906293 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906293(C;C) |
Alt | rs387906293(C;C) |
Reference | Rs387906293(-;-) |
Significance | Pathogenic |
Disease | Polyglandular autoimmune syndrome |
Variation | info |
Gene | AIRE |
CLNDBN | Polyglandular autoimmune syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.45712883dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003475.4, |